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Gene mutation that causes auditory neuropathy identified

February 04, 2016

Burmeister says finding the genes causing such rare disorders is very difficult because researchers cannot look at many different families, and instead have to rely on a single family that is often not large enough. But in this study, the researchers used a multi-pronged approach. Rather than relying purely on genetic inheritance information, they combined this information with biological function regarding gene activity.

"The approach we used here of combining genetic inheritance with functional information can be applied to identify the culprit genes in many other rare genetic diseases that have so far been impossible to nail down," says Burmeister, professor of Psychiatry and Human Genetics.

"We can now say we have a tool by combining several genomic approaches to find these genes."

Burmeister, Lesperance and colleagues are actively recruiting research subjects for studies to identify genes involved in genetic hearing loss and also for inherited neurological disorders. Those interested can sign up at www.umengageafter searching on keywords neurological, deafness or hearing loss.

SOURCE University of Michigan Health System

www.med.umich